The p.(Pro170Leu) variant in NOG impairs noggin secretion and causes autosomal dominant congenital conductive hearing loss due to stapes ankylosis  

作　　者：Yilai Shu Lijun Wang Xiaoting Cheng Chayada Tangshewinsirikul Weili Shi Yasheng Yuan Zhiqiang Yan Huawei Li Jun Shen Bing Chen Weiguo Zou 

机构地区：[1]ENT Institute and Otorhinolaryngology Department of the Affiliated Eye and ENT Hospital,State Key Laboratory of Medical Neurobiology,Fudan University,Shanghai,200031 China [2]Institutes of Biomedical Sciences,Fudan University,Shanghai,200032,China [3]NHC Key Laboratory of Hearing Medicine,Fudan University,Shanghai,200031,China [4]State Key Laboratory of Cell Biology,Shanghai Institutes for Biological Sciences,Chinese Academy of Sciences,Shanghai,200031,China [5]Brigham and Women's Hospital,Harvard Medical School,Boston,MA,02115,USA [6]Ramathibodi Hospital,Mahidol University,Bangkok,Thailand [7]Medical Genetics Institute of Henan Province,Henan Provincial People's Hospital,People's Hospital of Zhengzhou University,Zhengzhou,450003,China [8]State Key Laboratory of Medical Neurobiology and MOE Frontiers Center for Brain Science,Human Phenome Institute,Ministry of Education Key Laboratory of Contemporary Anthropology,Collaborative Innovation Center of Genetics and Development,Institute of Brain Science,Department of Physiology and Biophysics,School of Life Sciences,Fudan University,Shanghai,200438,China [9]Harvard Medical School Center for Hereditary Deafness,Boston,MA,02115,USA

出　　处：《Journal of Genetics and Genomics》2019年第9期445-449,共5页遗传学报（英文版）

基　　金：funded in part by the National Nature Science Foundation of China(81771013,81822011,and 81570914);Science and Technology Commission of Shanghai Municipality(17ZR1448600 and 18410712400);the National Institute on Deafness and Other Communication Disorders of the National Institutes of Health in the United States(R03DC013866 and R01DC015052)

摘　　要：Conductive hearing loss is the impairment in the mechanical transduction of sound wave through the external ear and the middle ear.Although most cases are sporadic due to acquired causes such as infections(otitis media and otitis externa),cerumen obstruction,and injuries,congenital structural defects are uncommon for significant etiologies to recognize.Stapes ankylosis is characterized by conductive hearing loss.It may be difficult to differentiate from otosclerosis,the most common cause of progressive conductive hearing loss,by audiologic evaluation,when the diagnosis is delayed.Skeletal anomalies may be subtle,such that the syndrome may not be recognized(Brown et al.,2002).

关 键 词：CONGENITAL injuries diagnosis 

分 类 号：R49[医药卫生—康复医学]